Canonical Allele Identifier: CA1599850
Gene: SRD5A2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31526262C>T
GRCh37 chr2:g.31751332C>T
gnomAD v2:
2:31751332 C / T
gnomAD v3:
2:31526262 C / T
gnomAD v4:
chr2-31526262-C-T
Joint Max Group AF 0.00008933 (SAS)
Genomes Max Group AF 0.00012886 (AMR)
Exomes Max Group AF 0.00009434 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526262C>T , CM000664.2:g.31526262C>T GRCh38
NC_000002.11:g.31751332C>T , CM000664.1:g.31751332C>T GRCh37
NC_000002.10:g.31604836C>T NCBI36
NG_008365.1:g.59710G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.699G>A MANE Select ENSP00000477587.1:p.Arg233=
ENST00000622030.1:c.699G>A ENSP00000477587.1:p.Arg233=
NM_000348.3:c.699G>A NP_000339.2:p.Arg233=
XM_011533069.1:c.477G>A XP_011531371.1:p.Arg159=
XM_011533070.1:c.444G>A XP_011531372.1:p.Arg148=
XM_011533071.1:c.444G>A XP_011531373.1:p.Arg148=
XM_011533072.1:c.444G>A XP_011531374.1:p.Arg148=
XM_011533069.2:c.477G>A XP_011531371.1:p.Arg159=
XM_011533072.2:c.444G>A XP_011531374.1:p.Arg148=
NM_000348.4:c.699G>A MANE Select NP_000339.2:p.Arg233=
Search 100 bp 5'
Search 100 bp 3'